COSMIC:
COSM3755646 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49160651 (EAS)
Genomes Max Group AF
0.47215278 (EAS)
Exomes Max Group AF
0.49241895 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49993514C>T , CM000679.2:g.49993514C>T | GRCh38 |
| NC_000017.10:g.48070878C>T , CM000679.1:g.48070878C>T | GRCh37 |
| NC_000017.9:g.45425877C>T | NCBI36 |
| NG_023063.1:g.6711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.402G>A MANE Select | ENSP00000389870.2:p.Thr134= | |
| ENST00000512495.2:c.42G>A | ENSP00000449976.1:p.Thr14= | |
| NM_005220.2:c.402G>A | NP_005211.1:p.Thr134= | |
| XM_011524458.1:c.402G>A | XP_011522760.1:p.Thr134= | |
| NM_005220.3:c.402G>A MANE Select | NP_005211.1:p.Thr134= |